He was friendly and cooperative. He took the trouble of explaining the situation very clearly to us. We have developed a strong...Read more reviews

Lybrate User's review for Dr. Sadhna Sha

Dr Sha is very experienced. She explains the medical condition of the patient in a clear manner. Dr Sha also prescribed the min...Read more reviews

BLOOM SYNDROME

Bloom syndrome is a genetic disorder that is characterized by short stature and predisposition to the development of cancer and genomic instability. Symptoms are:
• Short stature
• Scaly, infiltrated rash on the face
• High pitched voice
• Long narrow face, prominent nose and ears
• Pigmentation changes

HOW IS BLOOM SYNDROME DIAGNOSED?

This syndrome can be diagnosed by a pediatrician or a specialist from the genetics department with the help of a gene test that will test the blood lymphocytes to determine the presence of quadriradicals that may cause this disease.

HOW IS BLOOM SYNDROME TREATED?

There is no cure for Bloom syndrome. Children with this syndrome need nutritional monitoring to ensure maximum growth. Experiments with growth hormones in bloom patients have been largely unsuccessful. People with the disease are advised to stay out of the sun and wear sunscreen, particularly during childhood, to prevent skin lesions. They should aslo make an effort to avoid infection of all kinds. In school, they may require special education classes due to learning difficulties.

DID YOU KNOW?

Men with Bloom syndrome are sterile, while women are reportedly less fertile and have a short reproductive span.